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rs886042503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Chromosome4
Position52038258
GeneSGCB
is asnp
is mentioned by
dbSNPrs886042503
dbSNP (classic)rs886042503
ClinGenrs886042503
ebirs886042503
HLIrs886042503
Exacrs886042503
Gnomadrs886042503
Varsomers886042503
LitVarrs886042503
Maprs886042503
PheGenIrs886042503
Biobankrs886042503
1000 genomesrs886042503
hgdprs886042503
ensemblrs886042503
geneviewrs886042503
scholarrs886042503
googlers886042503
pharmgkbrs886042503
gwascentralrs886042503
openSNPrs886042503
23andMers886042503
SNPshotrs886042503
SNPdbers886042503
MSV3drs886042503
GWAS Ctlgrs886042503
Max Magnitude0
ClinVar
Risk rs886042503(-;-)
Alt rs886042503(-;-)
Reference Rs886042503(AT;AT)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCB
CLNDBN Limb-girdle muscular dystrophy, type 2E
Reversed 0
HGVS NC_000004.11:g.52904424_52904425delAT
CLNSRC
CLNACC RCV000281769.1,